A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

por Gaboon, Nagwa E. A., Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y., Alsaedi, Mosab S., Wasif, Naveed
Publicado 2019

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

por Gaboon, Nagwa E. A., Parveen, Asia, Ahmad, Khaled A., Shuaib, Taghreed, Al-Aama, Jumana Y., Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
Publicado 2020

Genetic etiology and clinical challenges of phenylketonuria

por Elhawary, Nasser A., AlJahdali, Imad A., Abumansour, Iman S., Elhawary, Ezzeldin N., Gaboon, Nagwa, Dandini, Mohammed, Madkhali, Abdulelah, Alosaimi, Wafaa, Alzahrani, Abdulmajeed, Aljohani, Fawzia, Melibary, Ehab M., Kensara, Osama A.
Publicado 2022

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects

por Gaboon, Nagwa E.A., Banaganapalli, Babajan, Nasser, Khalidah, Razeeth, Mohammed, Alsaedi, Mosab S., Rashidi, Omran M., Abdelwehab, Lereen S., Alahmadi, Turki Saad, Safdar, Osama Y., Shaik, Jilani, Choudhry, Hani M.Z., Al-numan, Huda Husain, Khan, Mohammad Imran, Al-Aama, Jumana Y., Elango, Ramu, Shaik, Noor A.
Publicado 2020

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

por Parveen, Asia, Khan, Sher Alam, Mirza, Muhammad Usman, Bashir, Hina, Arshad, Fatima, Iqbal, Maria, Ahmad, Waseem, Wahab, Ahsan, Fiaz, Amal, Naz, Sidra, Ashraf, Fareeha, Mobeen, Tayyaba, Aziz, Salman, Ahmed, Syed Shoaib, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Gaboon, Nagwa E., Gul, Roquyya, Khan, Saadullah, Froeyen, Matheus, Shoaib, Muhammad, Wasif, Naveed
Publicado 2019